Patient Condition
PRNP gene D178N mutation (129M homozygous), father and aunt both died of FFI. Progressive insomnia for 5 months, accompanied by hallucinations, myoclonus, and excessive salivation.
Treatment Timeline
| Phase | Details | Date |
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| Symptom control and sleep induction | | |
| Immunomodulation and symptomatic treatment | | |
| Long-term maintenance and palliative care | | |
Treatment Outcome
| before | TST 36 minutes/24 hours, severe hallucinations and myoclonus, inability to stand independently |
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| after | TST improved to 80 minutes/24 hours, the frequency of hallucinations was reduced by 70%, myoclonus was significantly reduced, and blood pressure stabilized |
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| highlight | Multidisciplinary management at Japan's top prion disease diagnosis and treatment center effectively controls exercise and mental symptoms, and the palliative care team provides comprehensive end-stage care |
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